Metadata | |
---|---|
ID | DOID:0070151 |
Name | hereditary sensory and autonomic neuropathy type 6 |
Definition | A hereditary sensory neuropathy characterized by neonatal hypotonia, respiratory and feeding difficulties, impaired psychomotor development, and autonomic abnormalities that has_material_basis_in homozygous mutation in the DST gene on chromosome 6p12. https://www.ncbi.nlm.nih.gov/pubmed/22522446 |
Xrefs | |
Subsets |
DO_rare_slim |
Synonyms |
hereditary sensory and autonomic neuropathy type VI [EXACT] HSAN6 [EXACT] |
Parent Relationships |